A rare case report of intermediate osteopetrosis and review of literature

Benign adult type Osteopetrosis with recurrent osteomyelitis of Maxilla-- A rare case report.

“…The other characteristic radiographic findings of the disease are diffuse sclerosis of bone with loss of corticomedullary differentiation, loss of femoral neck angle, endplate sclerosis of vertebra seen as "rugger jersey" spine, metaphyseal deformity of long bones which was seen as flask shape called "Erlenmeyer-flask" deformity and occlusion of nerve canals. 7 All these features were evident in this patient.…”

“…Hyperbaric oxygen therapy has been recommended for management of cases chronic osteomyelitis. 7 Our patient was treated with a course of antibiotics and is under regular follow-up.…”

Case of osteopetrosis with multiple impacted primary and permanent teeth diagnosed at eight years old

“…In spite of visual and hearing impairments, short stature, and dental abnormalities, the present patient was not diagnosed until 8 years old. Dental examination results can sometimes lead to diagnosis of osteopetrosis [5,[20][21][22], especially those showing osteomyelitis of the jaw [5,21,22]. Fortunately, the intraoral condition of the present patient was found to be good and no factors related to spread of inflammation to the jawbone were noted.…”

“…Based on its inheritance form and clinical severity, osteopetrosis is classified into three distinct types; (1) severe/malignant infantile type with autosomal recessive inheritance, (2) intermediate type with dominant or autosomal recessive inheritance, and (3) mild/late onset/adult type with autosomal dominant inheritance [3,4]. As for the main systemic manifestations, bone osteosclerosis develops, resulting in a short stature and likelihood of bone fractures [5]. Osteosclerosis in the skull base causes narrowing of the neural foramen, which leads to cranial nerve damage, as well as vision and hearing loss [3].…”